ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2251G>C (p.Gly751Arg) (rs63751119)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000680198 SCV000807662 likely pathogenic Lynch syndrome I 2018-06-13 reviewed by expert panel curation Same amino acid change as pathogenic variant
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508314 SCV000601463 likely pathogenic not provided 2016-09-07 criteria provided, single submitter clinical testing

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